AHSA2P
pseudoactivator of HSP90 ATPase homolog 2, pseudogene
Gene summary
Predicted to enable ATPase activator activity. Predicted to be involved in protein folding. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
- AHSA2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to AHSA2P variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- positive regulation of ATPase activity
Molecular Function
- ATPase activator activity
- protein binding
- chaperone binding
- Hsp90 protein binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000394457
- Coding exons
- 4
- Length
- 13786
- Individuals with no LoFs
- 124909
- Homozygous LoFs
- 6
- Heterozygous LoFs
- 831
- Defined
- 125746
- p
- 0.00333
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.906 | 88 | 67.1 | 1.31 | 0.00000294 | 896 |
| Missense (PolyPhen) | 12 | 8.1821 | 1.4666 | 131 | ||
| Synonymous | -0.223 | 26 | 24.6 | 1.06 | 0.00000112 | 251 |
| Loss of Function | 0.323 | 6 | 6.92 | 0.867 | 2.93e-7 | 85 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.011 | 0.011 | notable |
| Latino/Admixed American | 0.0013 | 0.0013 | notable |
| Ashkenazi Jewish | 0.00060 | 0.00060 | rare |
| East Asian | 0.019 | 0.018 | notable |
| Finnish | 0.00037 | 0.00037 | rare |
| European (Non-Finnish) | 0.0014 | 0.0013 | notable |
| South Asian | 0.0031 | 0.0030 | notable |
| Other | 0.0030 | 0.0029 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Co-chaperone that stimulates HSP90 ATPase activity. {ECO:0000250|UniProtKB:Q12449}.;
Intolerance Scores
- RVIS EVS
- -0.34
- RVIS percentile EVS
- 30.07
Essentials
- Essential (gene trap)
- N